Factor XIII Deficiency
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NORD is very grateful to Aida Inbal, MD, Professor in Hematology, Director Hematology Clinic and Thrombosis and Hemostasis Unit, Beilinson Hospital, Rabin Medical Center, Israel, for assistance in the preparation of this report.
Synonyms of Factor XIII Deficiency
- congenital factor XIII deficiency
- fibrin stabilizing factor deficiency
- inherited factor XIII deficiency
- No subdivisions found.
Factor XIII deficiency is a rare, genetic bleeding disorder characterized by deficiency of clotting factor XIII. Clotting factors are specialized proteins that are essential for the blood to clot properly. Specifically, individuals with factor XIII deficiency form blood clots like normal, but these clots are unstable and often break down, resulting in prolonged, uncontrolled bleeding episodes. Factor XIII also affects other processes in the body and is known to play a role in proper wound healing and pregnancy. The severity of factor XIII deficiency bleeds can vary greatly from one person to another. Some individuals may have only mild symptoms; other individuals may have severe, life-threatening bleeds. With early diagnosis and prompt treatment, the more serious bleeds of factor XIII deficiency can be avoided. FXIII consists of two subunits: subunit A and subunit B. Most of the Factor XIII deficiency states are caused by mutations in subunit A; very few have a mutation in subunit B. Factor XIII deficiency is inherited as an autosomal recessive disorder.
This report deals with the genetic form of factor XIII deficiency, which is present at birth (congenital); the disorder can also be acquired during life. Although the genetic form is present at birth, symptoms may not become apparent until later during life. Congenital factor XIII deficiency was first described in the medical literature by Duckert, et al., in 1960.
Organizations related to Factor XIII Deficiency
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